A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2202540



Internal ID7526965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:2591357..2591663hg38UCSC Ensembl
Outerchr3:2591171..2591860hg38UCSC Ensembl
Innerchr3:2633041..2633347hg19UCSC Ensembl
Outerchr3:2632855..2633544hg19UCSC Ensembl
Innerchr3:2608041..2608347hg18UCSC Ensembl
Outerchr3:2607855..2608544hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38690
hg19690
hg18690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4856017
SamplesNA18507
Known GenesCNTN4
MethodSequencing
AnalysisHierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.
PlatformNot specified
Comments
ReferenceBentley_et_al_2008
Pubmed ID18987734
Accession Number(s)esv2202540
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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